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2018

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

Mordes, D. A., Prudencio, M., Goodman, L. D., Klim, J. R., Moccia, R., Limone, F., Pietilainen, O., Chowdhary, K., Dickson, D. W., Rademakers, R., Bonini, N. M., Petrucelli, L. & Eggan, K., Jul 4 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

108 Scopus citations

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

Popuri, K., Dowds, E., Beg, M. F., Balachandar, R., Bhalla, M., Jacova, C., Buller, A., Slack, P., Sengdy, P., Rademakers, R. V., Wittenberg, D., Feldman, H. H., Mackenzie, I. R. & Hsiung, G. Y. R., Jan 1 2018, In : NeuroImage: Clinical. 18, p. 591-598 8 p.

Research output: Contribution to journalArticle

9 Scopus citations

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Pottier, C., Rampersaud, E., Baker, M., Wu, G., Wuu, J., McCauley, J. L., Zuchner, S., Schule, R., Bermudez, C., Hussain, S., Cooley, A., Wallace, M., Zhang, J., Taylor, J. P., Benatar, M. & Rademakers, R. V., Mar 20 2018, (Accepted/In press) In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-3 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of missing variants by combining multiple analytic pipelines

Ren, Y., Reddy, J. S., Pottier, C., Sarangi, V., Tian, S., Sinnwell, J. P., McDonnell, S. K., Biernacka, J. M., Carrasquillo, M. M., Ross, O. A., Ertekin-Taner, N., Rademakers, R., Hudson, M., Mainzer, L. S. & Asmann, Y. W., Apr 16 2018, In : BMC bioinformatics. 19, 1, 139.

Research output: Contribution to journalArticle

2 Scopus citations

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

International FTD-Genomics Consortium, Jan 2018, In : PLoS Medicine. 15, 1, e1002487.

Research output: Contribution to journalArticle

38 Scopus citations
16 Scopus citations

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: Implications for clinical use and genetic discovery efforts in human disease

Ebbert, M. T. W., Farrugia, S. L., Sens, J. P., Jansen-West, K., Gendron, T. F., Prudencio, M., McLaughlin, I. J., Bowman, B., Seetin, M., Dejesus-Hernandez, M., Jackson, J., Brown, P. H., Dickson, D. W., Van Blitterswijk, M., Rademakers, R., Petrucelli, L. & Fryer, J. D., Aug 21 2018, In : Molecular neurodegeneration. 13, 1, 46.

Research output: Contribution to journalArticle

21 Scopus citations

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

Nicholson, A. M., Zhou, X., Perkerson, R. B., Parsons, T. M., Chew, J., Brooks, M., DeJesus-Hernandez, M., Finch, N. C. A., Matchett, B. J., Kurti, A., Jansen-West, K. R., Perkerson, E., Daughrity, L., Castanedes-Casey, M., Rousseau, L., Phillips, V., Hu, F., Gendron, T. F., Murray, M. E., Dickson, D. W. & 3 others, Fryer, J. D., Petrucelli, L. & Rademakers, R., May 31 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations

Caneus, J., Granic, A., Rademakers, R., Dickson, D. W., Coughlan, C. M., Chial, H. J. & Potter, H., Mar 1 2018, In : Molecular biology of the cell. 29, 5, p. 575-586 12 p.

Research output: Contribution to journalArticle

13 Scopus citations

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities

Konno, T., Miura, T., Harriott, A. M., Mezaki, N., Edwards, E. S., Rademakers, R., Ross, O. A., Meschia, J. F., Ikeuchi, T. & Wszolek, Z. K., Jun 2018, In : European Journal of Neurology. 25, 6, p. 875-881 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency

Arrant, A. E., Nicholson, A. M., Zhou, X., Rademakers, R. & Roberson, E. D., Jun 22 2018, In : Molecular neurodegeneration. 13, 1, 32.

Research output: Contribution to journalArticle

5 Scopus citations

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

Meeter, L. H. H., Gendron, T. F., Sias, A. C., Jiskoot, L. C., Russo, S. P., Donker Kaat, L., Papma, J. M., Panman, J. L., van der Ende, E. L., Dopper, E. G., Franzen, S., Graff, C., Boxer, A. L., Rosen, H. J., Sanchez-Valle, R., Galimberti, D., Pijnenburg, Y. A. L., Benussi, L., Ghidoni, R., Borroni, B. & 21 others, Laforce, R., del Campo, M., Teunissen, C. E., van Minkelen, R., Rojas, J. C., Coppola, G., Geschwind, D. H., Rademakers, R., Karydas, A. M., Öijerstedt, L., Scarpini, E., Binetti, G., Padovani, A., Cash, D. M., Dick, K. M., Bocchetta, M., Miller, B. L., Rohrer, J. D., Petrucelli, L., van Swieten, J. C. & Lee, S. E., May 2018, In : Annals of Clinical and Translational Neurology. 5, 5, p. 583-597 15 p.

Research output: Contribution to journalArticle

15 Scopus citations

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Zhang, Y. J., Gendron, T. F., Ebbert, M. T. W., O’Raw, A. D., Yue, M., Jansen-West, K., Zhang, X., Prudencio, M., Chew, J., Cook, C. N., Daughrity, L. M., Tong, J., Song, Y., Pickles, S. R., Castanedes-Casey, M., Kurti, A., Rademakers, R., Oskarsson, B., Dickson, D. W., Hu, W. & 3 others, Gitler, A. D., Fryer, J. D. & Petrucelli, L., Aug 1 2018, In : Nature Medicine. 24, 8, p. 1136-1142 7 p.

Research output: Contribution to journalArticle

59 Scopus citations
Open Access
23 Scopus citations

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

25 Scopus citations

Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs

Kasanuki, K., Ross, O. A., Deture, M., Walton, R. L., Sanchez-Contreras, M., Koga, S., Murray, M. E., Rademakers, R. V. & Dickson, D. W., Jan 1 2018, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

Sanchez-Contreras, M. Y., Kouri, N., Cook, C. N., Serie, D. J., Heckman, M. G., Finch, N. A., Caselli, R. J., Uitti, R. J., Wszolek, Z. K., Graff-Radford, N., Petrucelli, L., Wang, L. S., Schellenberg, G. D., Dickson, D. W., Rademakers, R. & Ross, O. A., Jul 9 2018, In : Molecular neurodegeneration. 13, 1, 37.

Research output: Contribution to journalArticle

8 Scopus citations

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

Chou, C. C., Zhang, Y., Umoh, M. E., Vaughan, S. W., Lorenzini, I., Liu, F., Sayegh, M., Donlin-Asp, P. G., Chen, Y. H., Duong, D. M., Seyfried, N. T., Powers, M. A., Kukar, T., Hales, C. M., Gearing, M., Cairns, N. J., Boylan, K. B., Dickson, D. W., Rademakers, R., Zhang, Y. J. & 5 others, Petrucelli, L., Sattler, R., Zarnescu, D. C., Glass, J. D. & Rossoll, W., Feb 1 2018, In : Nature Neuroscience. 21, 2, p. 228-239 12 p.

Research output: Contribution to journalArticle

101 Scopus citations

Three VCP Mutations in Patients with Frontotemporal Dementia

Wong, T. H., Pottier, C., Hondius, D. C., Meeter, L. H. H., Van Rooij, J. G. J., Melhem, S., Van Minkelen, R., Van Duijn, C. M., Rozemuller, A. J. M., Seelaar, H., Rademakers, R. V. & Van Swieten, J. C., Jan 1 2018, In : Journal of Alzheimer's Disease. 65, 4, p. 1139-1146 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

TMEM106B haplotypes have distinct gene expression patterns in aged brain

Ren, Y., Van Blitterswijk, M., Allen, M., Carrasquillo, M. M., Reddy, J. S., Wang, X., Beach, T. G., Dickson, D. W., Ertekin-Taner, N., Asmann, Y. W. & Rademakers, R., Jul 3 2018, In : Molecular neurodegeneration. 13, 1, 35.

Research output: Contribution to journalArticle

5 Scopus citations

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

McGoldrick, P., Zhang, M., van Blitterswijk, M., Sato, C., Moreno, D., Xiao, S., Zhang, A. B., McKeever, P. M., Weichert, A., Schneider, R., Keith, J., Petrucelli, L., Rademakers, R., Zinman, L., Robertson, J. & Rogaeva, E., Jan 23 2018, In : Neurology. 90, 4, p. e323-e331

Research output: Contribution to journalArticle

Open Access
17 Scopus citations

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

The Genetic FTD Initiative (GENFI) & The Alzheimer’S Disease Neuroimaging Initiative (ADNI), Dec 1 2018, In : Nature communications. 9, 1, 4273.

Research output: Contribution to journalArticle

28 Scopus citations
2017

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Finch, N. A., Wang, X., Baker, M. C., Heckman, M. G., Gendron, T. F., Bieniek, K. F., Wuu, J., Dejesus-Hernandez, M., Brown, P. H., Chew, J., Jansen-West, K. R., Daughrity, L. M., Nicholson, A. M., Murray, M. E., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Petrucelli, L., Boeve, B. F. & 8 others, Graff-Radford, N. R., Asmann, Y. W., Dickson, D. W., Benatar, M., Bowser, R., Boylan, K. B., Rademakers, R. & Van Blitterswijk, M., Jan 1 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

6 Scopus citations

ATXN2 trinucleotide repeat length correlates with risk of ALS

Sproviero, W., Shatunov, A., Stahl, D., Shoai, M., van Rheenen, W., Jones, A. R., Al-Sarraj, S., Andersen, P. M., Bonini, N. M., Conforti, F. L., Van Damme, P., Daoud, H., Del Mar Amador, M., Fogh, I., Forzan, M., Gaastra, B., Gellera, C., Gitler, A. D., Hardy, J., Fratta, P. & 27 others, La Bella, V., Le Ber, I., Van Langenhove, T., Lattante, S., Lee, Y. C., Malaspina, A., Meininger, V., Millecamps, S., Orrell, R., Rademakers, R., Robberecht, W., Rouleau, G., Ross, O. A., Salachas, F., Sidle, K., Smith, B. N., Soong, B. W., Sorarù, G., Stevanin, G., Kabashi, E., Troakes, C., van Broeckhoven, C., Veldink, J. H., van den Berg, L. H., Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Mar 1 2017, In : Neurobiology of aging. 51, p. 178.e1-178.e9

Research output: Contribution to journalArticle

27 Scopus citations

Brain calcifications and PCDH12 variants

Nicolas, G., Sanchez-Contreras, M., Ramos, E. M., Lemos, R. R., Ferreira, J., Moura, D., Sobrido, M. J., Richard, A. C., Lopez, A. R., Legati, A., Deleuze, J. F., Boland, A., Quenez, O., Krystkowiak, P., Favrole, P., Geschwind, D. H., Aran, A., Segel, R., Levy-Lahad, E., Dickson, D. W. & 3 others, Coppola, G., Rademakers, R. & De Oliveira, J. R. M., 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

6 Scopus citations

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Hirsch-Reinshagen, V., Pottier, C., Nicholson, A. M., Baker, M., Hsiung, G. Y. R., Krieger, C., Sengdy, P., Boylan, K. B., Dickson, D. W., Mesulam, M., Weintraub, S., Bigio, E., Zinman, L., Keith, J., Rogaeva, E., Zivkovic, S. A., Lacomis, D., Taylor, J. P., Rademakers, R. & Mackenzie, I. R. A., Dec 7 2017, In : Acta Neuropathologica Communications. 5, 1, 1 p.

Research output: Contribution to journalArticle

13 Scopus citations
23 Scopus citations

Cognitive impairment in progressive supranuclear palsy is associated with tau burden

Koga, S., Parks, A., Kasanuki, K., Sanchez-Contreras, M., Baker, M. C., Josephs, K. A., Ahlskog, J. E., Uitti, R. J., Graff-Radford, N., van Gerpen, J. A., Wszolek, Z. K., Rademakers, R. & Dickson, D. W., Dec 2017, In : Movement Disorders. 32, 12, p. 1772-1779 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

Ebbert, M. T. W., Ross, C. A., Pregent, L. J., Lank, R. J., Zhang, C., Katzman, R. B., Jansen-West, K., Song, Y., da Rocha, E. L., Palmucci, C., Desaro, P., Robertson, A. E., Caputo, A. M., Dickson, D. W., Boylan, K. B., Rademakers, R. V., Ordog, T., Li, H. & Belzil, V., Aug 14 2017, (Accepted/In press) In : Acta Neuropathologica. p. 1-14 14 p.

Research output: Contribution to journalArticle

8 Scopus citations

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy

Sanchez-Contreras, M., Soto, A. I., Walton, R. L., Wszolek, Z. K., Dickson, D. W., Ross, O. A. & Rademakers, R. V., 2017, (Accepted/In press) In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

2 Scopus citations

Detection of long repeat expansions from PCR-free whole-genome sequence data

The US–Venezuela Collaborative Research Group, Nov 2017, In : Genome Research. 27, 11, p. 1895-1903 9 p.

Research output: Contribution to journalArticle

61 Scopus citations

Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration

Mao, Q., Wang, D., Li, Y., Kohler, M., Wilson, J., Parton, Z., Shmaltsuyeva, B., Gursel, D., Rademakers, R. V., Weintraub, S., Mesulam, M. M., Xia, H. & Bigio, E. H., Nov 1 2017, In : Journal of Neuropathology and Experimental Neurology. 76, 11, p. 957-968 12 p.

Research output: Contribution to journalArticle

9 Scopus citations

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

The IFGC and IPDGC members, Feb 1 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 2, p. 152-164 13 p.

Research output: Contribution to journalArticle

42 Scopus citations

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

DeJesus-Hernandez, M., Finch, N. C. A., Wang, X., Gendron, T. F., Bieniek, K. F., Heckman, M. G., Vasilevich, A., Murray, M. E., Rousseau, L., Weesner, R., Lucido, A., Parsons, M., Chew, J., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Boeve, B. F., Graff-Radford, N. R., de Boer, J. & 6 others, Asmann, Y. W., Petrucelli, L., Boylan, K. B., Dickson, D. W., van Blitterswijk, M. & Rademakers, R., Aug 1 2017, In : Acta neuropathologica. 134, 2, p. 255-269 15 p.

Research output: Contribution to journalArticle

27 Scopus citations

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

Evers, B. M., Rodriguez-Navas, C., Tesla, R. J., Prange-Kiel, J., Wasser, C. R., Yoo, K. S., McDonald, J., Cenik, B., Ravenscroft, T. A., Plattner, F., Rademakers, R. V., Yu, G., White, C. L. & Herz, J., Sep 12 2017, In : Cell Reports. 20, 11, p. 2565-2574 10 p.

Research output: Contribution to journalArticle

35 Scopus citations

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

Lee, S. E., Sias, A. C., Mandelli, M. L., Brown, J. A., Brown, A. B., Khazenzon, A. M., Vidovszky, A. A., Zanto, T. P., Karydas, A. M., Pribadi, M., Dokuru, D., Coppola, G., Geschwind, D. H., Rademakers, R., Gorno-Tempini, M. L., Rosen, H. J., Miller, B. L. & Seeley, W. W., 2017, In : NeuroImage: Clinical. 14, p. 286-297 12 p.

Research output: Contribution to journalArticle

51 Scopus citations

Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis

C9ORF72 Neurofilament Study Group, Jul 2017, In : Annals of neurology. 82, 1, p. 139-146 8 p.

Research output: Contribution to journalArticle

32 Scopus citations

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Gendron, T. F., Chew, J., Stankowski, J. N., Hayes, L. R., Zhang, Y. J., Prudencio, M., Carlomagno, Y., Daughrity, L. M., Jansen-West, K., Perkerson, E. A., O'Raw, A., Cook, C., Pregent, L., Belzil, V., Van Blitterswijk, M., Tabassian, L. J., Lee, C. W., Yue, M., Tong, J., Song, Y. & 59 others, Castanedes-Casey, M., Rousseau, L., Phillips, V., Dickson, D. W., Rademakers, R., Fryer, J. D., Rush, B. K., Pedraza, O., Caputo, A. M., Desaro, P., Palmucci, C., Robertson, A., Heckman, M. G., Diehl, N. N., Wiggs, E., Tierney, M., Braun, L., Farren, J., Lacomis, D., Ladha, S., Fournier, C. N., McCluskey, L. F., Elman, L. B., Toledo, J. B., McBride, J. D., Tiloca, C., Morelli, C., Poletti, B., Solca, F., Prelle, A., Wuu, J., Jockel-Balsarotti, J., Rigo, F., Ambrose, C., Datta, A., Yang, W., Raitcheva, D., Antognetti, G., McCampbell, A., Van Swieten, J. C., Miller, B. L., Boxer, A. L., Brown, R. H., Bowser, R., Miller, T. M., Trojanowski, J. Q., Grossman, M., Berry, J. D., Hu, W. T., Ratti, A., Traynor, B. J., Disney, M. D., Benatar, M., Silani, V., Glass, J. D., Floeter, M. K., Rothstein, J. D., Boylan, K. B. & Petrucelli, L., Mar 29 2017, In : Science translational medicine. 9, 383, eaai7866.

Research output: Contribution to journalArticle

58 Scopus citations

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

Prudencio, M., Gonzales, P. K., Cook, C., Gendron, T. D., Daughrity, L. M., Song, Y., Ebbert, M. T. W., Van Blitterswijk, M., Zhang, Y., Jansen-West, K., Baker, M. C., Deture, M., Rademakers, R. V., Boylan, K. B., Dickson, D. W., Petrucelli, L. & Link, C. D., Sep 1 2017, In : Human Molecular Genetics. 26, 17, p. 3421-3431 11 p.

Research output: Contribution to journalArticle

28 Scopus citations

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

International FTD-Genomics Consortium (IFGC), May 1 2017, In : Acta neuropathologica. 133, 5, p. 825-837 13 p.

Research output: Contribution to journalArticle

31 Scopus citations

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Taskesen, E., Mishra, A., van der Sluis, S., Ferrari, R., Veldink, J. H., van Es, M. A., Smit, A. B., Posthuma, D., Pijnenburg, Y., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L. & 142 others, Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Dec 1 2017, In : Scientific reports. 7, 1, 8899.

Research output: Contribution to journalArticle

Open Access
12 Scopus citations

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

Mackenzie, I. R., Nicholson, A. M., Sarkar, M., Messing, J., Purice, M. D., Pottier, C., Annu, K., Baker, M., Perkerson, R. B., Kurti, A., Matchett, B. J., Mittag, T., Temirov, J., Hsiung, G. Y. R., Krieger, C., Murray, M. E., Kato, M., Fryer, J. D., Petrucelli, L., Zinman, L. & 22 others, Weintraub, S., Mesulam, M., Keith, J., Zivkovic, S. A., Hirsch-Reinshagen, V., Roos, R. P., Züchner, S., Graff-Radford, N. R., Petersen, R. C., Caselli, R. J., Wszolek, Z. K., Finger, E., Lippa, C., Lacomis, D., Stewart, H., Dickson, D. W., Kim, H. J., Rogaeva, E., Bigio, E., Boylan, K. B., Taylor, J. P. & Rademakers, R., Aug 16 2017, In : Neuron. 95, 4, p. 808-816.e9

Research output: Contribution to journalArticle

182 Scopus citations

TMEM106B and myelination: Rare leukodystrophy families reveal unexpected connections

Zhou, X. & Rademakers, R. V., Dec 1 2017, In : Brain. 140, 12, p. 3069-3072 4 p.

Research output: Contribution to journalArticle

2016

Assessment of olfactory function in MAPT-associated neurodegenerative disease reveals odor-identification irreproducibility as a non-disease-specific, general characteristic of olfactory dysfunction

Markopoulou, K., Chase, B. A., Robowski, P., Strongosky, A., Narozańska, E., Sitek, E. J., Berdynski, M., Barcikowska, M., Baker, M. C., Rademakers, R., Sławek, J., Klein, C., Hückelheim, K., Kasten, M. & Wszolek, Z. K., Nov 2016, In : PloS one. 11, 11, e0165112.

Research output: Contribution to journalArticle

6 Scopus citations

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

Zhang, Y., Gendron, T. D., Grima, J. C., Sasaguri, H., Jansen-West, K., Xu, Y. F., Katzman, R. B., Gass, J., Murray, M. E., Shinohara, M., Lin, W. L., Garrett, A., Stankowski, J. N., Daughrity, L., Tong, J., Perkerson, E. A., Yue, M., Chew, J., Castanedes-Casey, M., Kurti, A. & 16 others, Wang, Z. S., Liesinger, A. M., Baker, J. D., Jiang, J., Lagier-Tourenne, C., Edbauer, D., Cleveland, D. W., Rademakers, R. V., Boylan, K. B., Bu, G. D., Link, C. D., Dickey, C. A., Rothstein, J. D., Dickson, D. W., Fryer, J. D. & Petrucelli, L., May 1 2016, In : Nature Neuroscience. 19, 5, p. 668-677 10 p.

Research output: Contribution to journalArticle

124 Scopus citations

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

Esanov, R., Belle, K. C., van Blitterswijk, M., Belzil, V. V., Rademakers, R., Dickson, D. W., Petrucelli, L., Boylan, K. B., Dykxhoorn, D. M., Wuu, J., Benatar, M., Wahlestedt, C. & Zeier, Z., Mar 1 2016, In : Experimental Neurology. 277, p. 171-177 7 p.

Research output: Contribution to journalArticle

10 Scopus citations

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Williams, K. L., Topp, S., Yang, S., Smith, B., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N., Vance, C., Hu, X., Chesi, A., Leblond, C. S., Lee, A., Rayner, S. L., Sundaramoorthy, V., Dobson-Stone, C., Molloy, M. P., Van Blitterswijk, M., Dickson, D. W., Petersen, R. C. & 48 others, Graff-Radford, N. R., Boeve, B. F., Murray, M. E., Pottier, C., Don, E., Winnick, C., McCann, E. P., Hogan, A., Daoud, H., Levert, A., Dion, P. A., Mitsui, J., Ishiura, H., Takahashi, Y., Goto, J., Kost, J., Gellera, C., Gkazi, A. S., Miller, J., Stockton, J., Brooks, W. S., Boundy, K., Polak, M., Muñoz-Blanco, J. L., Esteban-Pérez, J., Rábano, A., Hardiman, O., Morrison, K. E., Ticozzi, N., Silani, V., De Belleroche, J., Glass, J. D., Kwok, J. B. J., Guillemin, G. J., Chung, R. S., Tsuji, S., Brown, R. H., García-Redondo, A., Rademakers, R., Landers, J. E., Gitler, A. D., Rouleau, G. A., Cole, N. J., Yerbury, J. J., Atkin, J. D., Shaw, C. E., Nicholson, G. A. & Blair, I. P., Apr 15 2016, In : Nature communications. 7, 11253.

Research output: Contribution to journalArticle

83 Scopus citations

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C

Koga, S., Josephs, K. A., Ogaki, K., Labbé, C., Uitti, R. J., Graff Radford, N. R., Van Gerpen, J. A., Cheshire, W. P., Aoki, N., Rademakers, R. V., Wszolek, Z. K., Ross, O. A. & Dickson, D. W., 2016, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

34 Scopus citations

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy

Koga, S., Sanchez-Contreras, M., Josephs, K. A., Uitti, R. J., Graff Radford, N. R., Van Gerpen, J. A., Cheshire, W. P., Wszolek, Z. K., Rademakers, R. V. & Dickson, D. W., 2016, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

24 Scopus citations